| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v0.378 | KIF24 | Chirag Patel Marked gene: KIF24 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.378 | KIF24 | Chirag Patel Gene: kif24 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.378 | KIF24 | Chirag Patel Classified gene: KIF24 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.378 | KIF24 | Chirag Patel Gene: kif24 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.377 | KIF24 |
Chirag Patel gene: KIF24 was added gene: KIF24 was added to Skeletal dysplasia. Sources: Genomics England PanelApp Mode of inheritance for gene: KIF24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF24 were set to 35748595 Phenotypes for gene: KIF24 were set to Skeletal dysplasia MONDO:0018230, KIF24 related Review for gene: KIF24 was set to GREEN Added comment: 6 individuals from 3 unrelated families affected by a spectrum of skeletal abnormalities ranging from a lethal fetal skeletal ciliopathy to acromesomelic skeletal dysplasia and a less severe spondylometaphyseal dysplasia. All individuals had different biallelic missense variants in KIF24 which segregated with the phenotype. In vitro studies showed that ciliogenesis and cytokinesis were severely affected in amnioblasts of one affected fetus. Sources: Genomics England PanelApp |
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